Investigations of Bone-Related Connective Tissue Disorders

Trial Information
Status: Recruiting
Location: See location...
Study Type: Observational

This study offers evaluation and treatment of patients with a suspected connective tissue disorder. The protocol is not designed to test new treatments; rather, patients receive standard care. The study is designed to: 1) allow NICHD's staff to learn more about connective tissue disorders, 2) train physicians in the evaluation and treatment of these disorders; and 3) establish a pool of patients who may be eligible for other NICHD protocols for connective tissue disorders. (Participants in this protocol will not be required to join another study; the decision will be voluntary.) Patients of all ages with a suspected connective tissue disorder and their unaffected family members may be eligible for this study. Participants undergo diagnostic procedures that may include a medical history, physical examination, X-ray studies, eye examinations, and blood drawing, as well as other specialized tests, when needed. Additional tests may include: Blood test for DNA genetic analysis Skin biopsy: Removal of a small piece of tissue for microscopic examination. The area of skin selected for the biopsy is numbed and a small circle of skin, usually from the upper arm, is removed with a surgical cookie cutter-like instrument. Magnetic resonance imaging (MRI): This test uses a strong magnetic field and radio waves to show structural and chemical changes in tissues. The patient lies on a table that slides into a narrow cylinder containing a magnetic field. Ear plugs are worn to muffle loud knocking and thumping sounds that occur with electrical switching of the magnetic fields. Computed tomography (CT) scans: This test allows the doctor to view the organs inside the body in small sections. The patient lies in a doughnut-like machine. Scanning can be done from different angles, allowing a three dimensional picture of the part of the body being studied. It may be done with or without injection of a contrast material. Referral to appropriate sub-specialists when potential complications are found.

Am I eligible for this trial?
Participation Requirements
Maximum Age:
Healthy Volunteers:
Accepts Healthy Volunteers

• Individuals with suspected connective tissue disorder, OR Family members of individuals with suspected connective tissue disorder

Where is this trial taking place?
United States
National Institutes of Health Clinical Center, 9000 Rockville Pike
Who do I contact about this trial?
Joan C Marini, M.D.
(301) 594-3418
When is this trial taking place?
Start Date: May 18, 2004
How many participants will be in this trial?
Target number of participants: 400
What treatment is being studied in this trial?
Enrolled Cohort
All patients enrolled, as this is a evaluation/diagnostic study
Who are the authors of this trial?

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